Property Summary

NCBI Gene PubMed Count 40
PubMed Score 52.16
PubTator Score 45.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.600 4.6e-03
group 3 medulloblastoma 1.900 5.4e-03

Gene RIF (18)

PMID Text
26987071 photoreceptor degeneration caused by missense mutations via endoplasmic reticulum unfolded protein response
26427415 Data suggest that mutant tubby like protein 1 (TULP1) proteins are misfolded and accumulate within the endoplasmic reticulum (ER) leading to induction of the unfolded protein response (UPR) stress response complex.
25342276 The TULP1 allele p.Gln301* represents a founder mutation on the Arabian Peninsula and is associated with a recognisable congenital recessive rod-cone dystrophy phenotype in the homozygous state.
25074776 Retinal degeneration with TULP1 mutations leads to a small central island of residual foveal cones at early ages which are less sensitive than expected from the residual structure.
24664737 Tubby and Tulp1 mediated phagocytosis through MerTK-dependent signaling with non-muscle myosin II redistribution leading to colocalization of phagocytosed vesicles with rearranged NMMIIA.
24547928 This study highlights the value of the broad sequencing strategy of exome sequencing for disease gene identification in Leber congenital amaurosis, over other existing methods.
23499059 Maternal uniparental isodisomy of chromosome 6 unmasked a mutation in the TULP1 gene as a novel cause of cone dysfunction.
22841784 The single nucleotide polymorphisms rs4374383 and rs9380516 were linked to the functionally related genes MERTK and TULP1, which encode factors involved in phagocytosis of apoptotic cells by macrophages.
22665969 One recurrent (c.1138A>G; p.Thr380Ala) and one novel (c.1445G>A; p.Arg482Gln) mutations in TULP1 have been identified in Pakistani families with early-onset retinitis pigmentosa.
22605927 Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a missense mutation in TULP1.
21987678 Pathogenic mutations in TULP1 are responsible for the autosomal recessive retinitis pigmentosa phenotype in these consanguineous Pakistani families, with a single ancestral mutation in TULP1 causing the disease phenotype in 4 of 5 families.
20978472 Tubby and Tulp1 are bridging molecules with their N-terminal region as MERTK-binding domain and C-terminal region as phagocytosis prey-binding domain.
20801516 Observational study of genetic testing. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
19837063 Tubby and Tulp1 function as phagocytosis sigmals (eat-me) for retinal pigment epithelium cells and other phagocytes.
18432314 A novel splice-site mutation of TULP1, c.1495+2_1495+3insT, underlying autosomal recessive early-onset RP in a consanguineous Israeli Muslim Arab family.
17962469 Mutation in the TULP1 gene is a rare cause of LCA/EORD (Leber congenital amaurosis or early-onset retinal degeneration.
17620573 The affected members of the Surinamese family have a severe early-onset form of autosomal recessive retinitis pigmentosa, which is caused by compound heterozygous mutations in the TULP1 gene.

AA Sequence

MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRP      1 - 70
REEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKIL     71 - 140
LPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPS    141 - 210
GSPASARKSPAAMFLVGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEER    211 - 280
APSPPVEVDEPREFVLRPAPQGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANY    281 - 350
LISIDPTNLSRGGENFIGKLRSNLLGNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRR    351 - 420
MTVIIPGMSAENERVPIRPRNASDGLLVRWQNKTLESLIELHNKPPVWNDDSGSYTLNFQGRVTQASVKN    421 - 490
FQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCALQAFAIALSSFDGKLACE                      491 - 542
//

Text Mined References (40)

PMID Year Title
26987071 2016 Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.
26427415 2016 TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR).
25342276 2015 A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
25074776 2014 TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
24664737 2014 Synergistic interaction of tubby and tubby-like protein 1 (Tulp1).
24547928 2015 Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
23499059 2013 Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
22841784 2012 Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
22665969 2012 Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
22605927 2012 Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
21987678 2011 Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
20978472 2010 Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
19837063 2010 Identification of tubby and tubby-like protein 1 as eat-me signals by phage display.
18432314 2008 A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
17962469 2007 Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
17620573 2007 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
16303976 2005 Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells.
15557452 2004 A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11481257 2001 A role for the Tubby-like protein 1 in rhodopsin transport.
10711677 2000 Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
10607826 2000 Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.
10549638 1999 Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix.
10440267 1999 Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
9660588 1998 Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.
9521870 1998 Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.
9462751 1998 TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
9462750 1998 Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
9096357 1997 Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.
7987322 1994 Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.
1000483 1976 Early morning hydroxyproline excretion in patients with breast cancer.